Year: 2026
Type: article
Study design: Systematic Review
Abstract: Background Genetic testing is a cornerstone of personalised medicine, yet its implementation depends on population understanding, acceptance and informed decision-making. Variability in perceptions across populations may affect uptake and equity, posing challenges for public health integration. Methods A systematic review was conducted to synthesise evidence on perceptions, attitudes and decision-making related to genetic testing across multiple populations. We searched the following databases from inception to May 2025 to identify evidence syntheses: MEDLINE (Ovid), Embase (Elsevier), PsycINFO (EBSCO), CINAHL (EBSCO), the Cochrane Library (Wiley), Web of Science (FECYT), TRIP Database Pro, and the International HTA Database (INAHTA). A total of 2,345 records were identified, of which 1,594 were screened after duplicates were removed. Following full-text assessment, 63 studies were included. Data were analysed using thematic synthesis. Results The included studies, predominantly systematic reviews (n = 45), scoping reviews (n = 7), and meta-analyses (n = 3), synthesised evidence from over 1,500 primary studies. Mixed-methods approaches predominated (74.6%). Findings revealed substantial variability in knowledge and attitudes. Key barriers included limited genetic literacy, concerns about privacy and discrimination, and uncertainty regarding clinical utility. Facilitators included perceived personal and familial benefits, trust in healthcare professionals, and access to genetic counselling. Differences across populations highlighted inequities in access and understanding. Conclusions Population perceptions of genetic testing are heterogeneous and context-dependent. Addressing informational, ethical, and organisational barriers is essential to support informed decision-making and to ensure the equitable integration of genetic testing into public health systems. Key messages • Population perceptions, not only technological advances, determine the real-world uptake, equity, and impact of genetic testing in public health systems. • Synthesising 63 studies, this review identifies key barriers and facilitators to genetic testing, informing strategies for equitable and effective implementation.
Institutions: Fundación Progreso y Salud, Universidad de Sevilla
Language: English
Topic: Ethics in Clinical Research
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,181
OpenAlex ID: W7223679194